HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000484375.1:p.[Ser101_Leu106delinsProValValIleTyrTrpAsp;Arg108_Glu112delinsThrAlaLeuArgCys;Arg114Phe;Cys116_Pro119delinsProValLeu;Arg121_Leu130delinsGluThrGlyAlaGlnArgLysArgIle] |
CA497716735
ENST00000619186.4:c.300del
|